Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02133:Gtdc1'

281075

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gtdc1

Ensembl Gene

ENSMUSG00000036890

Gene Name

glycosyltransferase-like domain containing 1

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

IGL02133

Quality Score

Status

Chromosome

Chromosomal Location

44564412-44927657 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 44575443 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 305 (M305K)

Ref Sequence

ENSEMBL: ENSMUSP00000038119 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049051] [ENSMUST00000112810] [ENSMUST00000130991]

AlphaFold

Q8BW56

Predicted Effect

probably damaging
Transcript: ENSMUST00000049051
AA Change: M305K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000038119
Gene: ENSMUSG00000036890
AA Change: M305K

Domain	Start	End	E-Value	Type
Pfam:DUF3524	1	108	1.4e-44	PFAM
Pfam:Glycos_transf_1	208	360	4.9e-13	PFAM
Pfam:Glyco_trans_1_4	210	348	2.3e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000112810
AA Change: M364K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108429
Gene: ENSMUSG00000036890
AA Change: M364K

Domain	Start	End	E-Value	Type
Pfam:DUF3524	2	167	1.3e-74	PFAM
Pfam:Glycos_transf_1	266	444	1.3e-10	PFAM
Pfam:Glyco_trans_1_4	269	407	1.4e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000130991

SMART Domains

Protein: ENSMUSP00000116839
Gene: ENSMUSG00000036890

Domain	Start	End	E-Value	Type
Pfam:DUF3524	1	87	1.7e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134813

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143333

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011H14Rik	T	A	14: 49,232,967	Q165L	probably benign	Het
9530068E07Rik	G	T	11: 52,403,510	A193S	probably damaging	Het
Adam4	A	G	12: 81,420,029	V606A	probably benign	Het
Atp2c2	A	G	8: 119,754,335	I821V	probably benign	Het
Bmi1	A	T	2: 18,683,677	R160W	probably damaging	Het
Ccdc88c	G	A	12: 100,940,090	R1062C	probably damaging	Het
Cntnap3	A	T	13: 64,751,673		probably benign	Het
Col20a1	C	T	2: 181,007,144	T940I	probably damaging	Het
Csmd3	A	C	15: 47,857,942	M1535R	possibly damaging	Het
Dhx38	C	A	8: 109,558,241	E487*	probably null	Het
Fam186b	A	G	15: 99,273,703	S888P	probably damaging	Het
Fancm	G	A	12: 65,106,475	G1235D	probably benign	Het
Grin3a	C	T	4: 49,792,946	W262*	probably null	Het
H2-M9	T	C	17: 36,641,737	E139G	possibly damaging	Het
Haus1	A	T	18: 77,766,911	L53Q	probably damaging	Het
Hgfac	A	G	5: 35,046,587	Y483C	probably damaging	Het
Hipk2	C	T	6: 38,819,134	V67I	probably benign	Het
Kbtbd8	T	C	6: 95,121,732		probably benign	Het
Kndc1	A	G	7: 139,920,767	T683A	probably benign	Het
Ldhb	A	T	6: 142,492,500	M277K	probably benign	Het
Mgam	T	C	6: 40,643,076	L33P	probably damaging	Het
Ndst1	A	G	18: 60,699,546	F571L	probably benign	Het
Neb	G	T	2: 52,212,804		probably null	Het
Nrxn1	A	G	17: 90,643,243	S503P	probably damaging	Het
Paqr3	A	G	5: 97,095,931	V308A	probably benign	Het
Scnn1g	T	C	7: 121,743,699	F292L	probably damaging	Het
Stk3	A	G	15: 35,099,516	F88S	probably damaging	Het
Tcaf2	T	A	6: 42,627,396	E683V	probably benign	Het
Tprkb	T	C	6: 85,927,911	V123A	probably benign	Het
Ush2a	T	C	1: 188,443,343	Y1213H	probably damaging	Het
Vwa5b1	A	G	4: 138,586,557		probably null	Het
Wls	A	G	3: 159,897,370	Y140C	probably damaging	Het
Zan	A	G	5: 137,411,498	S28P	possibly damaging	Het

Other mutations in Gtdc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01594:Gtdc1	APN	2	44591879	critical splice donor site	probably null
IGL02465:Gtdc1	APN	2	44570423	missense	probably damaging	1.00
IGL02488:Gtdc1	APN	2	44825439	missense	probably benign	0.38
IGL02835:Gtdc1	UTSW	2	44756312	nonsense	probably null
K3955:Gtdc1	UTSW	2	44752221	critical splice acceptor site	probably null
R0121:Gtdc1	UTSW	2	44565538	splice site	probably benign
R0270:Gtdc1	UTSW	2	44752174	missense	possibly damaging	0.94
R0490:Gtdc1	UTSW	2	44635040	missense	probably benign	0.03
R1506:Gtdc1	UTSW	2	44575494	missense	possibly damaging	0.65
R1889:Gtdc1	UTSW	2	44591914	missense	probably damaging	1.00
R1944:Gtdc1	UTSW	2	44752186	missense	possibly damaging	0.95
R3724:Gtdc1	UTSW	2	44756307	missense	probably damaging	0.96
R4134:Gtdc1	UTSW	2	44825418	missense	probably damaging	1.00
R4416:Gtdc1	UTSW	2	44575590	splice site	probably null
R4666:Gtdc1	UTSW	2	44591925	missense	probably benign	0.05
R4732:Gtdc1	UTSW	2	44789055	intron	probably benign
R4947:Gtdc1	UTSW	2	44591956	missense	probably null	0.01
R5474:Gtdc1	UTSW	2	44756367	missense	probably damaging	1.00
R5911:Gtdc1	UTSW	2	44752064	missense	probably benign	0.41
R6370:Gtdc1	UTSW	2	44756322	missense	probably damaging	0.99
R6809:Gtdc1	UTSW	2	44575551	nonsense	probably null
R6809:Gtdc1	UTSW	2	44825384	missense	probably damaging	1.00
R7270:Gtdc1	UTSW	2	44635310	missense	probably benign	0.01
R7581:Gtdc1	UTSW	2	44790005	splice site	probably null
R8547:Gtdc1	UTSW	2	44788981	intron	probably benign
R8951:Gtdc1	UTSW	2	44789018	intron	probably benign
R8997:Gtdc1	UTSW	2	44825374	missense	probably benign	0.02
R9796:Gtdc1	UTSW	2	44825374	missense	probably benign	0.02
X0063:Gtdc1	UTSW	2	44570447	missense	probably damaging	1.00

Posted On

2015-04-16